Renal Fanconi syndrome: First sign of partial respiratory chain complex IV deficiency

Pediatric Nephrology

Volumn 14, Issue 6, 2000, Pages 495-498

  Kuwertz Bröking, Eberhard ^a   Koch, Hans Georg ^a   Marquardt, Thorsten ^a   Rossi, Rainer ^b   Helmchen, Udo ^c   Müller Höcker, Josef ^d   Harms, Erik ^a   Bulla, Monika ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b VIVANTES KLINIKUM NEUKÖLLN   (Germany)

^c UNIVERSITY OF HAMBURG   (Germany)

^d UNIVERSITY OF MUNICH   (Germany)

Author keywords

Cytochrome c oxidase deficiency; De Toni Debre Fanconi syndrome; Lactaturia; Mitochondriopathy; Rickets

Indexed keywords

3 HYDROXYBUTYRIC ACID; ALBUMIN; ALPHA 1 MICROGLOBULIN; CREATININE; CYTOCHROME C OXIDASE; IMMUNOGLOBULIN G; KETONE; LACTIC ACID; PHOSPHATE; TRANSFERRIN;

AMINOACIDURIA; ARTICLE; BIOCHEMISTRY; BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; CREATININE CLEARANCE; CYTOCHEMISTRY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; FANCONI RENOTUBULAR SYNDROME; GLUCOSURIA; HUMAN; HUMAN TISSUE; HYPERCALCIURIA; HYPOPHOSPHATEMIA; HYPOURICEMIA; KIDNEY BIOPSY; KIDNEY CONCENTRATING CAPACITY; KIDNEY PROXIMAL TUBULE; MALE; METABOLIC ACIDOSIS; MITOCHONDRION; MUSCLE WEAKNESS; NEUROLOGIC DISEASE; PHOSPHATURIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; RESPIRATORY CHAIN; RICKETS; SKELETAL MUSCLE; URINALYSIS;

EID: 0342313509     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670050802     Document Type: Article

References (12)

1. Brodehl J (1992) The Fanconi syndrome. In: Edelman CM (ed) Pediatric kidney disease. Little Brown, Boston, pp 1841-1871
2. Das AM, Schweitzer-Krantz S, Byrd DJ, Brodehl J (1994) Absence of cytochrome c oxidase acitivity in a boy with dysfunction of renal tubules, brain and muscle. Eur J Peditar 153: 267-270
3. Mochizuki H, Joh K, Kawame H, Imadachi A, Nozaki H, Ohashi T, Usui N, Eto Y, Kanetsuna Y, Aizawa S (1996) Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis. Clin Nephrol 46:347-352
4. Morris AAM, Taylor RW, Birch-Machin MA, Jackson MJ, Coulthard MG, Bindoff LA, Welch RJ, Howell N, Turnbull DM (1995) Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol 9:407-411
5. Ogier H, Lombes A, Scholte HR, Poll-The BT, Fardeau M, Alcardi J, Vignes B, Niaudet P, Saudubray JM (1988) de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency. J Pediatr 112: 734-739
6. Sperl W, Ruitenbeek W, Trijbels JMF, Sengers RCA, Stadthouders AM, Guggenbichler JP (1988) Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxireductase acitivity. Eur J Pediatr 147:418-421
7. Szabolcs MJ, Seigle R, Shanske S, Bonilla E, DiMauro S, D'Agati V (1994) Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy. Kidney Int 45:1388-1396
8. Niaudet P, Rötig A (1996) Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 10:368-373
9. De Vivo DC (1993) The expanding clinical spectrum of mitochondrial diseases. Brain Dev 15:1-22
10. Paetzke I, Deufel T, Gerbitz KD (1990) Diagnostik von Atmungskettendefekten aus gefrorenem Muskelbiopsiematerial. In: Gerbitz KD, Deufel T (eds) Mitochondriale Stoffwechseldefekte: Diagnostik kongenitaler Hyperlaktatämien und mitochondrialer Myopathien. Huber, Bern, pp 97-101
11. Trijbels JMF, Sengers RCA, Ruitenbeek W, Fischer JC, Bakkeren JAJM, Janssen AJM (1988) Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach. Eur J Pediatr 148:92-97
12. Müller-Höcker J, Schäfer S (1996) Cytochemistry of cytochrome-c-oxidase at the electron microscope level. Methods Enzymol 264:540-555